present in Gene: AGL
present in Chromosome: 1
Position on Chromosome: 99861676
Alleles of this Variant: C/T
rs193186112 in
AGL gene and
Glycogen Storage Disease IIIA
PMID 20648714 2010 Molecular analysis of the AGL gene: identification of 25 novel mutations and evidence of genetic heterogeneity in patients with Glycogen Storage Disease Type III.
PMID 22899091 2013 Clinical application of massively parallel sequencing in the molecular diagnosis of glycogen storage diseases of genetically heterogeneous origin.
rs193186112 in
AGL gene and
Glycogen Storage Disease Type III
PMID 10655153 2000 Genotype-phenotype correlation in two frequent mutations and mutation update in type III glycogen storage disease.
PMID 22899091 2013 Clinical application of massively parallel sequencing in the molecular diagnosis of glycogen storage diseases of genetically heterogeneous origin.